• 대한장애인치과학회지
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• 제14권1호
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• pp.36-40
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• 2018

CATCH 22 증후군(CATCH 22 Syndrome)은 선천성 심장기형, 비정상적인 안모, 흉선 형성부전, 구개열, 저칼슘혈증을 특징으로 하나 임상양상은 다양하게 나타난다. 본 증례는 치과 검진에 비협조적이고 다수의 치아 우식을 보이는 4세 5개월의 CATCH 22 증후군 환자를 전신마취 하에 효과적으로 치료하였기에 이를 보고하는 바이다. CATCH 22 증후군 환아는 선천적 심장기형을 동반하는 경우가 많아 의과적 자문 하에 치과 치료를 시행해야 한다. 간단한 치료의 경우 의과적 자문 하에 진정법 시행을 고려해 볼 수 있으나 불안정한 생징후를 보일 수 있어 보다 면밀한 모니터링을 요한다. CATCH22 환아의 전신상태에 대한 충분한 이해 및 술전 평가를 바탕으로 한 주의깊게 시행된 전신마취 술식은 다발성 치아우식의 치료에 있어서 보다 안전하고 효과적인 방법이 될 수 있을 것으로 사료된다.

• Journal of Interdisciplinary Genomics
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• 제1권2호
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• pp.19-22
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• 2019

CATCH 22 syndrome is rare genetic disease that has various manifestations. Cervical vertebral anomaly, such as Klippel-Feil anomaly, is frequently observed in the patients with CATCH22 syndrome. We present the case of an 11-year-old female patient with CATCH22 syndrome and Klippel-Feil anomaly who had been treated torticollis using the customized soft neck collar. During the patient's first visit to our clinic, she presented with low ear set, skull deformity, intellectual disability, and tilting of the head to the left by approximately 25 degrees. Imaging studies revealed multisegmental fusion and C3 hemivertebrae of the cervical spine and left thoracic scoliosis at T4 with 50 degrees of Cobb's angle. We instructed passive stretching and applied the customized soft neck collar we invented. The ipsilateral aspect of the neck collar is designed to provide vertical support between the clavicle and mandibular angle and is adjustable in height. The Velcro was attached to the neck collar at the point of contact with the ipsilesional mandibular angle, which provides negative sensory feedback, inducing her to tilt neck to the contralesional side. We applied the neck collar for 2 hours a day. After 1 year of treatment, her neck inclination angle improved from 25 to 10 degrees. Providing negative sensory feedback using the customized soft neck collar can be one of the treatment options of postural management in patients with torticollis in cases of CATCH 22 syndrome combined with Klippel-Feil anomaly.

• 대한치과마취과학회지
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• 제13권1호
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• pp.13-18
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• 2013

CATCH 22 syndrome is a one of the most common chromosome microdeletion syndrome with multiple organ anomalies in humans, with an incidence of approximately 1:4,000 to 1:5,000 live births. It is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22. The phenotypic spectrum of this disorder is wide and various. A 19-year-old patient who showed delayed growth and development (Height; 110 cm, Weight; 18 kg) was referred to our department for the treatment of dental cavities. She was diagnosed as CATCH 22 syndrome in 2004. Physical examination revealed hypertelorism, a short philtrum, thick reflected lips and a small mouth. She underwent cleft palate surgery at 1 year of age and heart valve surgery due to the cardiovascular abnormality at 13 years of age. Convulsive seizures had persisted until 5 years ago but are well controlled at present. Oral examination showed poor oral hygiene, crowding, prolonged retention on #65, 75 and dental cavities on #16, 21, 65, 26, 36, and 46. Cavity treatment and prophylaxis were performed under general anesthesia. Also continuous follow-up checks have been carrying out with the periodic prophylaxis and dental home education. Problems with numerous cavities and gingivitis which can lead to specific risks are common for CATCH 22 syndrome patients. It is therefore of great importance that these patients are referred to foremost physician and dental specialist for the oral care. In addition, preventive treatment targeting the risk of dental cavities and gingivitis is especially important and, as the syndrome involves many different medical problems, the dental treatment should be carried out in collaboration with the patient's physician.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.110-116
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• 2021

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권4호
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• pp.303-329
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• 2019

Intestinal failure (IF) is the critical reduction of the gut mass or its function below the minimum needed to absorb nutrients and fluids required for adequate growth in children. Severe IF requires parenteral nutrition (PN). Pediatric IF is most commonly due to congenital or neonatal intestinal diseases or malformations divided into 3 groups: 1) reduced intestinal length and consequently reduced absorptive surface, such as in short bowel syndrome (SBS) or extensive aganglionosis; 2) abnormal development of the intestinal mucosa such as congenital diseases of enterocyte development; 3) extensive motility dysfunction such as chronic intestinal pseudo-obstruction syndromes. The leading cause of IF in childhood is the SBS. In clinical practice the degree of IF may be indirectly measured by the level of PN required for normal or catch up growth. Other indicators such as serum citrulline have not proven to be highly reliable prognostic factors in children. The last decades have allowed the development of highly sophisticated nutrient solutions consisting of optimal combinations of macronutrients and micronutrients as well as guidelines, promoting PN as a safe and efficient feeding technique. However, IF that requires long-term PN may be associated with various complications including infections, growth failure, metabolic disorders, and bone disease. IF Associated Liver Disease may be a limiting factor. However, changes in the global management of IF pediatric patients, especially since the setup of intestinal rehabilitation centres did change the prognosis thus limiting "nutritional failure" which is considered as a major indication for intestinal transplantation (ITx) or combined liver-ITx.